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Autistic spectrum disorders

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https://www.readbyqxmd.com/read/27912058/impaired-amino-acid-transport-at-the-blood-brain-barrier-is-a-cause-of-autism-spectrum-disorder
#1
Dora C Tărlungeanu, Elena Deliu, Christoph P Dotter, Majdi Kara, Philipp Christoph Janiesch, Mariafrancesca Scalise, Michele Galluccio, Mateja Tesulov, Emanuela Morelli, Fatma Mujgan Sonmez, Kaya Bilguvar, Ryuichi Ohgaki, Yoshikatsu Kanai, Anide Johansen, Seham Esharif, Tawfeg Ben-Omran, Meral Topcu, Avner Schlessinger, Cesare Indiveri, Kent E Duncan, Ahmet Okay Caglayan, Murat Gunel, Joseph G Gleeson, Gaia Novarino
Autism spectrum disorders (ASD) are a group of genetic disorders often overlapping with other neurological conditions. We previously described abnormalities in the branched-chain amino acid (BCAA) catabolic pathway as a cause of ASD. Here, we show that the solute carrier transporter 7a5 (SLC7A5), a large neutral amino acid transporter localized at the blood brain barrier (BBB), has an essential role in maintaining normal levels of brain BCAAs. In mice, deletion of Slc7a5 from the endothelial cells of the BBB leads to atypical brain amino acid profile, abnormal mRNA translation, and severe neurological abnormalities...
December 1, 2016: Cell
https://www.readbyqxmd.com/read/27911014/the-effectiveness-of-an-outdoor-adventure-programme-for-young-children-with-autism-spectrum-disorder-a-controlled-study
#2
Ditza A Zachor, Shira Vardi, Shani Baron-Eitan, Inbal Brodai-Meir, Noa Ginossar, Esther Ben-Itzchak
AIM: Outdoor adventure programmes aim to improve interpersonal relationships using adventurous activities. The current study examined the effectiveness of an outdoor adventure programme in children with autism spectrum disorders (ASD). METHOD: The study included 51 participants (40 males, 11 females; age 3y 4mo-7y 4mo) enrolled in ASD special education kindergartens. Only the intervention group (n=30) participated in the outdoor adventure programme for 13 weeks, completing challenging physical activities that required cooperation and communication with peers and instructors...
December 2, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27904735/urinary-metabolomics-of-young-italian-autistic-children-supports-abnormal-tryptophan-and-purine-metabolism
#3
Federica Gevi, Lello Zolla, Stefano Gabriele, Antonio M Persico
BACKGROUND: Autism spectrum disorder (ASD) is still diagnosed through behavioral observation, due to a lack of laboratory biomarkers, which could greatly aid clinicians in providing earlier and more reliable diagnoses. Metabolomics on human biofluids provides a sensitive tool to identify metabolite profiles potentially usable as biomarkers for ASD. Initial metabolomic studies, analyzing urines and plasma of ASD and control individuals, suggested that autistic patients may share some metabolic abnormalities, despite several inconsistencies stemming from differences in technology, ethnicity, age range, and definition of "control" status...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27903723/cerebellar-shank2-regulates-excitatory-synapse-density-motor-coordination-and-specific-repetitive-and-anxiety-like-behaviors
#4
Seungmin Ha, Dongwon Lee, Yi Sul Cho, Changuk Chung, Ye-Eun Yoo, Jihye Kim, Jiseok Lee, Woohyun Kim, Hyosang Kim, Yong Chul Bae, Keiko Tanaka-Yamamoto, Eunjoon Kim
: Shank2 is a multidomain scaffolding protein implicated in the structural and functional coordination of multiprotein complexes at excitatory postsynaptic sites as well as in psychiatric disorders, including autism spectrum disorders. While Shank2 is strongly expressed in the cerebellum, whether Shank2 regulates cerebellar excitatory synapses, or contributes to the behavioral abnormalities observed in Shank2(-/-) mice, remains unexplored. Here we show that Shank2(-/-) mice show reduced excitatory synapse density in cerebellar Purkinje cells in association with reduced levels of excitatory postsynaptic proteins, including GluD2 and PSD-93, and impaired motor coordination in the Erasmus test...
November 30, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27899901/association-of-aryl-hydrocarbon-receptor-related-gene-variants-with-the-severity-of-autism-spectrum-disorders
#5
Takashi X Fujisawa, Shota Nishitani, Ryoichiro Iwanaga, Junko Matsuzaki, Chisato Kawasaki, Mamoru Tochigi, Tsukasa Sasaki, Nobumasa Kato, Kazuyuki Shinohara
Exposure to environmental chemicals, such as dioxin, is known to have adverse effects on the homeostasis of gonadal steroids, thereby potentially altering the sexual differentiation of the brain to express autistic traits. Dioxin-like chemicals act on the aryl hydrocarbon receptor (AhR), polymorphisms, and mutations of AhR-related gene may exert pathological influences on sexual differentiation of the brain, causing autistic traits. To ascertain the relationship between AhR-related gene polymorphisms and autism susceptibility, we identified genotypes of them in patients and controls and determined whether there are different gene and genotype distributions between both groups...
2016: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/27894440/when-autistic-behavior-suggests-a-disease-other-than-classic-autism
#6
REVIEW
Mark D Simms
Most neurodevelopmental disorders are defined by their clinical symptoms and many disorders share common features. Recently there has been an increase in the number of children diagnosed with autism spectrum disorder, although concerns have been raised about the accuracy of the reported prevalence rates. This article reviews the essential features of autism spectrum disorder and describes other conditions that may include similar symptoms that may be misdiagnosed as autism spectrum disorder (primary communication disorders, anxiety disorders, attachment disorders, intellectual disability, vision and hearing impairment, and normal variations)...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27891819/autism-and-emotional-face-viewing
#7
Jakob Åsberg Johnels, Daniel Hovey, Nicole Zürcher, Loyse Hippolyte, Eric Lemonnier, Christopher Gillberg, Nouchine Hadjikhani
Atypical patterns of face-scanning in individuals with autism spectrum disorder (ASD) may contribute to difficulties in social interactions, but there is little agreement regarding what exactly characterizes face-viewing in ASD. In addition, little research has examined how face-viewing is modulated by the emotional expression of the stimuli, in individuals with or without ASD. We used eye-tracking to explore viewing patterns during perception of dynamic emotional facial expressions in relatively large groups of individuals with (n = 57) and without ASD (n = 58) and examined diagnostic- and age-related effects, after subgrouping children and adolescents (≤18 years), on the one hand, and adults (>18 years), on the other...
November 28, 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/27888397/synaptosome-associated-protein-25-snap25-gene-association-analysis-revealed-risk-variants-for-asd-in-iranian-population
#8
Mohammad Reza Safari, Mir Davood Omrani, Rezvan Noroozi, Arezou Sayad, Shaghayegh Sarrafzadeh, Alireza Komaki, Fateme Asadzadeh Manjili, Mehrdokht Mazdeh, Ali Ghaleiha, Mohammad Taheri
Autism spectrum disorder (ASD) is a common, complex neurological condition, affecting approximately 1% of people worldwide. Monogenic neurodevelopmental disorders which showed autistic behavior patterns have suggested synaptic dysfunction, as a key mechanism in the pathophysiology of ASD. Subsequently, genes involved in synaptic signaling have been investigated with a priority for candidate gene studies. A synaptosomal-associated protein 25 (SNAP25) gene plays a crucial role in the central nervous system, contributing to exocytosis by targeting and fusion of vesicles to the cell membrane...
November 26, 2016: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/27888271/investigation-of-the-association-between-motor-stereotypy-behavior-with-fundamental-movement-skills-adaptive-functioning-and-autistic-spectrum-disorder-symptomology-in-children-with-intellectual-disabilities
#9
Joanne L Powell, Lydia Pringle, Matt Greig
Motor stereotypy behaviors are patterned, coordinated, repetitive behaviors that are particularly evident in those with an autistic spectrum disorder and intellectual disabilities. The extent to which motor stereotypy behavior severity is associated with motor skills and maladaptive behavior, measures of adaptive functioning, along with fundamental movement skills and degree of autistic spectrum disorder symptomology is assessed in this preliminary report. Twelve participants, aged 7 to 16 years, with a reported motor stereotypy behavior and either mild or severe intellectual disability comprising developmental or global delay took part in the study...
November 25, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27885946/epilepsy-surgery-in-patients-with-autism
#10
Malgosia A Kokoszka, Patricia E McGoldrick, Maite La Vega-Talbott, Hillary Raynes, Christina A Palmese, Steven M Wolf, Cynthia L Harden, Saadi Ghatan
OBJECTIVE The purpose of this study was to report outcomes of epilepsy surgery in 56 consecutive patients with autism spectrum disorder. METHODS Medical records of 56 consecutive patients with autism who underwent epilepsy surgery were reviewed with regard to clinical characteristics, surgical management, postoperative seizure control, and behavioral changes. RESULTS Of the 56 patients with autism, 39 were male, 45 were severely autistic, 27 had a history of clinically significant levels of aggression and other disruptive behaviors, and 30 were considered nonverbal at baseline...
November 25, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27879968/can-urinary-indolylacroylglycine-iag-levels-be-used-to-determine-whether-children-with-autism-will-benefit-from-dietary-intervention
#11
Julie Wilson, Barry Wright, Sandra Jost, Robert Smith, Helen Pearce, Sally Richardson
BACKGROUND: An increase in urinary indolyl-3-acryloylglycine (IAG) has been reported in children with ASD who suffer with bowel problems in comparison to ASD children without gastrointestinal (GI) problems. The case for dietary intervention for ASD children with GI symptoms might be strengthened were such a difference to be autism-specific. METHODS: Quantitative analysis of urinary IAG levels was performed for 53 children on the autism spectrum and 146 age-matched controls...
November 23, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27878759/loss-of-adenylyl-cyclase-type-5-in-the-dorsal-striatum-produces-autistic-like-behaviors
#12
Hannah Kim, Yunjin Lee, Jin-Young Park, Ji-Eun Kim, Tae-Kyung Kim, Juli Choi, Jung-Eun Lee, Eun-Hwa Lee, Daesoo Kim, Kyoung-Shim Kim, Pyung-Lim Han
Autism spectrum disorders (ASDs) are a heterogeneous group of psychiatric illness characterized by common core symptoms including sociability deficits and stereotyped behaviors. ASD is caused by various genetic and non-genetic factors. The genetic effects of autism-related genes are usually global and are presented with multiple symptoms, which hamper understanding of the mechanism through which the diverse causes of ASD produce common symptoms. In the present study, we demonstrate that genetic or molecular disruption of an array of molecular networks centered on adenylyl cyclase type-5 (AC5 or ADCY5) in the dorsal striatum produces autistic-like behaviors...
November 23, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27872602/perceptual-averaging-in-individuals-with-autism-spectrum-disorder
#13
Jennifer E Corbett, Paola Venuti, David Melcher
There is mounting evidence that observers rely on statistical summaries of visual information to maintain stable and coherent perception. Sensitivity to the mean (or other prototypical value) of a visual feature (e.g., mean size) appears to be a pervasive process in human visual perception. Previous studies in individuals diagnosed with Autism Spectrum Disorder (ASD) have uncovered characteristic patterns of visual processing that suggest they may rely more on enhanced local representations of individual objects instead of computing such perceptual averages...
2016: Frontiers in Psychology
https://www.readbyqxmd.com/read/27868264/profiles-of-children-with-down-syndrome-who-meet-screening-criteria-for-autism-spectrum-disorder-asd-a-comparison-with-children-diagnosed-with-asd-attending-specialist-schools
#14
G Warner, P Howlin, E Salomone, J Moss, T Charman
BACKGROUND: Recent research suggests that around 16% to 18% of children with Down syndrome (DS) also meet diagnostic criteria for autism spectrum disorder (ASD). However, there are indications that profiles of autism symptoms in this group may vary from those typically described in children with ASD. METHOD: Rates of autism symptoms and emotional and behavioural problems among children with DS who screened positive for ASD on the Social Communication Questionnaire (SCQ) (n = 183) were compared with a group of children with clinical diagnoses of ASD (n = 189) attending specialist schools in the UK...
November 21, 2016: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/27868194/randomized-controlled-trial-of-vitamin-d-supplementation-in-children-with-autism-spectrum-disorder
#15
Khaled Saad, Ahmed A Abdel-Rahman, Yasser M Elserogy, Abdulrahman A Al-Atram, Amira A El-Houfey, Hisham A K Othman, Geir Bjørklund, Feiyong Jia, Mauricio A Urbina, Mohamed Gamil M Abo-Elela, Faisal-Alkhateeb Ahmad, Khaled A Abd El-Baseer, Ahmed E Ahmed, Ahmad M Abdel-Salam
BACKGROUND: Autism spectrum disorder (ASD) is a frequent developmental disorder characterized by pervasive deficits in social interaction, impairment in verbal and nonverbal communication, and stereotyped patterns of interests and activities. It has been previously reported that there is vitamin D deficiency in autistic children; however, there is a lack of randomized controlled trials of vitamin D supplementation in ASD children. METHODS: This study is a double-blinded, randomized clinical trial (RCT) that was conducted on 109 children with ASD (85 boys and 24 girls; aged 3-10 years)...
November 21, 2016: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/27867417/from-asperger-s-autistischen-psychopathen-to-dsm-5-autism-spectrum-disorder-and-beyond-a-subthreshold-autism-spectrum-model
#16
REVIEW
Liliana Dell'Osso, Riccardo Dalle Luche, Camilla Gesi, Ilenia Moroni, Claudia Carmassi, Mario Maj
Growing interest has recently been devoted to partial forms of autism, lying at the diagnostic boundaries of those conditions previously diagnosed as Asperger's Disorder. This latter includes an important retrieval of the European classical psychopathological concepts of adult autism to which Hans Asperger referred in his work. Based on the review of Asperger's Autistische Psychopathie, from first descriptions through the DSM-IV Asperger's Disorder and up to the recent DSM-5 Autism Spectrum Disorder, the paper aims to propose a Subthreshold Autism Spectrum Model that encompasses not only threshold-level manifestations but also mild/atypical symptoms, gender-specific features, behavioral manifestations and personality traits associated with Autism Spectrum Disorder...
2016: Clinical Practice and Epidemiology in Mental Health: CP & EMH
https://www.readbyqxmd.com/read/27862512/age-and-gender-related-differences-in-emotional-and-behavioural-problems-and-autistic-features-in-children-and-adolescents-with-down-syndrome-a-survey-based-study-of-674-individuals
#17
T Naerland, K A Bakke, S Storvik, G Warner, P Howlin
BACKGROUND: Recent studies have indicated an increased risk of autism, behavioural and emotional problems and attention-deficit/hyperactivity disorder in individuals with Down syndrome. METHOD: In a large-scale survey-based study, we examined the rates of these problems and their relationship to age and gender, in a sample of 674 individuals (4-18 years) with Down syndrome. The relationship with IQ level was also explored in a subsample (n = 175). The Strengths and Difficulties Questionnaire and the Social Communication Questionnaire were used to assess behavioural and emotional problems and autism traits...
November 13, 2016: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/27856622/in-vitro-fermentation-of-b-gos-impact-on-faecal-bacterial-populations-and-metabolic-activity-in-autistic-and-non-autistic-children
#18
Roberta Grimaldi, Drinalda Cela, Jonathan R Swann, Jelena Vulevic, Glenn R Gibson, George Tzortzis, Adele Costabile
Children with autism spectrum disorders (ASD) often suffer gastrointestinal problems consistent with imbalances in the gut microbial population. Treatment with antibiotics or pro/prebiotics has been postulated to regulate microbiota and improve gut symptoms, but there is a lack of evidence for such approaches, especially for prebiotics. This study assessed the influence of a prebiotic galactooligosaccharide (B-GOS) on gut microbial ecology and metabolic function using faecal samples from autistic and non-autistic children in an in vitro gut model system...
November 16, 2016: FEMS Microbiology Ecology
https://www.readbyqxmd.com/read/27856360/sensitivity-to-isoflurane-anesthesia-increases-in-autism-spectrum-disorder-shank3-%C3%A2-c-mutant-mouse-model
#19
Changsheng Li, Michele Schaefer, Christy Gray, Ya Yang, Orion Furmanski, Sufang Liu, Paul Worley, C David Mintz, Feng Tao, Roger A Johns
Autism is a heterogeneous developmental disorder characterized by impaired social interaction, impaired communication skills, and restricted and repetitive behavior. The abnormal behaviors of these patients can make their anesthetic and perioperative management difficult. Evidence in the literature suggests that some patients with autism or specific autism spectrum disorders (ASD) exhibit altered responses to pain and to anesthesia or sedation. A genetic mouse model of one particular ASD, Phelan McDermid Syndrome, has been developed that has a Shank3 haplotype truncation (Shank3(+/Δc))...
November 14, 2016: Neurotoxicology and Teratology
https://www.readbyqxmd.com/read/27848077/identification-of-new-trip12-variants-and-detailed-clinical-evaluation-of-individuals-with-non-syndromic-intellectual-disability-with-or-without-autism
#20
Nuria C Bramswig, H-J Lüdecke, M Pettersson, B Albrecht, R A Bernier, K Cremer, E E Eichler, D Falkenstein, J Gerdts, S Jansen, A Kuechler, M Kvarnung, A Lindstrand, D Nilsson, A Nordgren, R Pfundt, L Spruijt, H M Surowy, B B A de Vries, T Wieland, H Engels, T M Strom, T Kleefstra, D Wieczorek
The ubiquitin pathway is an enzymatic cascade including activating E1, conjugating E2, and ligating E3 enzymes, which governs protein degradation and sorting. It is crucial for many physiological processes. Compromised function of members of the ubiquitin pathway leads to a wide range of human diseases, such as cancer, neurodegenerative diseases, and neurodevelopmental disorders. Mutations in the thyroid hormone receptor interactor 12 (TRIP12) gene (OMIM 604506), which encodes an E3 ligase in the ubiquitin pathway, have been associated with autism spectrum disorder (ASD)...
November 15, 2016: Human Genetics
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